When is a medical finding “incidental”?

- Genet Med

Recent guidelines from the American College of Medical Genetics and Genomics (ACMG) regarding the return of incidental findings continue to generate controversy. At the heart of much of the controversy lies a single question: what makes a medical finding truly “incidental”?

Implicit in the new recommendations is a mandate to laboratories that when genome-scale sequencing is performed, the resultant data be actively and systematically queried for specific types of mutations in a selected set of genes. How can such a call for an active search be reconciled with the designation of those results as “incidental”? And why is this not tantamount to a call for overt screening for mutations in those genes? The details of how genome-scale sequencing is carried out, as well as long-established norms of clinical medical practice, are critical to resolving these questions.

This site compiles the latest research and academic journals as part of an NHMRC funded study, 'Maximizing the utility and sustainability of tissue banks: Supporting translational research in Australia through informed regulation and community engagement'.

This study is being conducted by the Centre for Values, Ethics and the Law in Medicine and the Centre for Health, Governance, Law and Ethics based at the University of Sydney, Australia. The Network for Bodies Organs and Tissues is also contributing.

A substantial portion of the material provided in the database on this website was collected for a project on personalized medicine at the Centre for Law and Genetics at the University of Tasmania. That project is funded by Australian Research Council Discovery Grant DP11010069.